NKX2-5, NK2 homeobox 5, 1482

N. diseases: 165; N. variants: 55
Disease: Hereditary bundle branch system defect ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1879286
Disease: Hereditary bundle branch system defect
Hereditary bundle branch system defect 		0.300 GermlineModifyingMutation disease ORPHANET Novel NKX2-5 mutations responsible for congenital heart disease. 22179962 2011